24 results on '"Salami, Fereshte"'
Search Results
2. The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
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Azizi, Gholamreza, Hesari, Mina Fattah, Sharifinejad, Niusha, Fayyaz, Farimah, Chavoshzadeh, Zahra, Mahdaviani, Seyed Alireza, Alan, Mahnaz Seifi, Jamee, Mahnaz, Tavakol, Marzieh, Sadri, Homa, Shahrestanaki, Ehsan, Nabavi, Mohammad, Ebrahimi, Sareh Sadat, Shirkani, Afshin, Vosughi Motlagh, Ahmad, Delavari, Samaneh, Rasouli, Seyed Erfan, Esmaeili, Marzie, Salami, Fereshte, Yazdani, Reza, Rezaei, Nima, and Abolhassani, Hassan
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- 2023
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3. Clinical heterogeneity in families with multiple cases of inborn errors of immunity
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Delavari, Samaneh, Rasouli, Seyed Erfan, Fekrvand, Saba, Chavoshzade, Zahra, Mahdaviani, Seyed Alireza, Shirmast, Paniz, Sharafian, Samin, Sherkat, Roya, Momen, Tooba, Aleyasin, Soheila, Ahanchian, Hamid, Sadeghi-Shabestari, Mahnaz, Esmaeilzadeh, Hossein, Barzamini, Sahar, Tarighatmonfared, Fateme, Salehi, Helia, Esmaeili, Marzie, Marzani, Zahra, Fathi, Nazanin, Abolnezhadian, Farhad, Rad, Mina Kianmanesh, Saeedi-Boroujeni, Ali, Shirkani, Afshin, Bagheri, Zahra, Salami, Fereshte, Shad, Tannaz Moeini, Marzbali, Mahsa Yousefpour, Mojtahedi, Hanieh, Razavi, Azadehsadat, Tavakolinia, Naeimeh, Cheraghi, Taher, Tavakol, Marzieh, Shafiei, Alireza, Behniafard, Nasrin, Ebrahimi, Sare Sadat, Sepahi, Najmeh, Ghaneimoghadam, Amirhossein, Rezaei, Arezou, Kalantari, Arash, Abolhassani, Hassan, and Rezaei, Nima
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- 2024
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4. Diversity of malignancies in patients with different types of inborn errors of immunity
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Tavakol, Marzieh, Delavari, Samaneh, Salami, Fereshte, Ansari, Sarina, Rasouli, Seyed Erfan, Chavoshzadeh, Zahra, Sherkat, Roya, Ahanchian, Hamid, Aleyasin, Soheila, Esmaeilzadeh, Hossein, Moazzen, Nasrin, Shafiei, Alireza, Abolnezhadian, Farhad, Iranparast, Sara, Ebrahimi, Sareh sadat, Moeini Shad, Tannaz, Pashangzadeh, Salar, Nazari, Farzad, Rezaei, Arezou, Saeedi-Boroujeni, Ali, Nabavi, Mohammad, Arshi, Saba, Fallahpour, Morteza, Bemanian, Mohammad hassan, Sharafian, Samin, Shokri, Sima, Eshaghi, Sarvin, Nazari, Shiva, Shamsian, Bibi Shahin, Dargahi Mal-Amir, Mehrdad, Khazaei, Roya, Ashkevari, Pooya, Khavandegar, Armin, Haghi, Sabahat, Esmaeili, Marzie, Abolhassani, Hassan, and Rezaei, Nima
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- 2022
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5. Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency
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Delavari, Samaneh, Abolhassani, Hassan, Abolnezhadian, Farhad, Babaha, Fateme, Iranparast, Sara, Ahanchian, Hamid, Moazzen, Nasrin, Nabavi, Mohammad, Arshi, Saba, Fallahpour, Morteza, Bemanian, Mohammad Hassan, Shokri, Sima, Momen, Tooba, Sadeghi-Shabestari, Mahnaz, Molatefi, Rasol, Shirkani, Afshin, Vosughimotlagh, Ahmad, Safarirad, Molood, Sharifzadeh, Meisam, Pashangzadeh, Salar, Salami, Fereshte, Shirmast, Paniz, Rezaei, Arezou, Moeini Shad, Tannaz, Mohraz, Minoo, Rezaei, Nima, Hammarström, Lennart, Yazdani, Reza, and Aghamohamamdi, Asghar
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- 2021
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6. Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review
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Habibi, Sima, Zaki-Dizaji, Majid, Rafiemanesh, Hosein, Lo, Bernice, Jamee, Mahnaz, Gámez-Díaz, Laura, Salami, Fereshte, Kamali, Ali N., Mohammadi, Hamed, Abolhassani, Hassan, Yazdani, Reza, Aghamohammadi, Asghar, Anaya, Juan-Manuel, and Azizi, Gholamreza
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- 2019
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7. Pulmonary Complications of Monogenic Patients with Common Variable Immunodeficiency: COVID-19 Perspectives.
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Delavari, Samaneh, Esmaeili, Marzie, Salami, Fereshte, Rasouli, Seyed Erfan, Fekrvand, Saba, Marzbali, Mahsa Yousefpour, Fathi, Nazanin, and Abolhassani, Hassan
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COMMON variable immunodeficiency ,PLASMA cells ,COVID-19 ,AUTOIMMUNE diseases ,PRIMARY immunodeficiency diseases ,PLASMA production - Abstract
Pulmonary complications are one the main causes of morbidity and mortality in patients with common variable immunodeficiency (CVID). Although CVID pathogenesis is not completely understood, several genes have been identified to mainly regulate the process of terminal B-cell differentiation, antibody isotype maturation and long-life memory/plasma cell generation. The link between underlying genetic defects and the prognosis of developing different clinical complications like different pulmonary manifestations is still elusive. We provide an overview of recent advancements in the monogenic form of CVID which lead to dysregulation of B-cells at different levels of cytokine stimulations, intracellular signaling, transcriptionfactor activation, gene transcription and epigenetic controls and predispose patients to different pulmonary complications. The susceptibility to Coronavirus disease 2019 pulmonary complications was discussed in these patients. Monogenic forms of CVID have a distinct pattern in different infectious and non-infectious pulmonary manifestations including autoimmunity, atopy, lymphoproliferation, and cancer. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity
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Delavari, Samaneh, primary, Wang, Yating, additional, Moeini shad, Tannaz, additional, Pashangzadeh, Salar, additional, Nazari, Farzad, additional, Salami, Fereshte, additional, and Abolhassani, Hassan, additional
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- 2023
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9. Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
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Abolhassani, Hassan, primary, Delavari, Samaneh, additional, Landegren, Nils, additional, Shokri, Sima, additional, Bastard, Paul, additional, Du, Likun, additional, Zuo, Fanglei, additional, Hajebi, Reza, additional, Abolnezhadian, Farhad, additional, Iranparast, Sara, additional, Modaresi, Mohammadreza, additional, Vosughimotlagh, Ahmad, additional, Salami, Fereshte, additional, Aranda-Guillén, Maribel, additional, Cobat, Aurélie, additional, Marcotte, Harold, additional, Zhang, Shen-Ying, additional, Zhang, Qian, additional, Rezaei, Nima, additional, Casanova, Jean-Laurent, additional, Kämpe, Olle, additional, Hammarström, Lennart, additional, and Pan-Hammarström, Qiang, additional
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- 2022
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10. Additional file 1 of Diversity of malignancies in patients with different types of inborn errors of immunity
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Tavakol, Marzieh, Delavari, Samaneh, Salami, Fereshte, Ansari, Sarina, Rasouli, Seyed Erfan, Chavoshzadeh, Zahra, Sherkat, Roya, Ahanchian, Hamid, Aleyasin, Soheila, Esmaeilzadeh, Hossein, Moazzen, Nasrin, Shafiei, Alireza, Abolnezhadian, Farhad, Iranparast, Sara, Ebrahimi, Sareh sadat, Moeini Shad, Tannaz, Pashangzadeh, Salar, Nazari, Farzad, Rezaei, Arezou, Saeedi-Boroujeni, Ali, Nabavi, Mohammad, Arshi, Saba, Fallahpour, Morteza, Bemanian, Mohammad hassan, Sharafian, Samin, Shokri, Sima, Eshaghi, Sarvin, Nazari, Shiva, Shamsian, Bibi Shahin, Dargahi Mal-Amir, Mehrdad, Khazaei, Roya, Ashkevari, Pooya, Khavandegar, Armin, Haghi, Sabahat, Esmaeili, Marzie, Abolhassani, Hassan, and Rezaei, Nima
- Abstract
Additional file 1: Fig. S1: Frequency of type of malignancy based on the IUIS classification. Table 1: Immunodeficiencies affecting cellular and humoral immunity, Table 2: Combined immunodeficiencies with associated or syndromic features, Table 3: Predominantly antibody deficiencies, Table 4: Diseases of immune dysregulation, Table 6: Defects in intrinsic and innate immunity. Fig. S2: Survival analysis of cohort of 82 IEI patients with malignancies based on the IUIS classification. Table 1: Immunodeficiencies affecting cellular and humoral immunity, Table 2: Combined immunodeficiencies with associated or syndromic features, Table 3: Predominantly antibody deficiencies, Table 4: Diseases of immune dysregulation, Table 6: Defects in intrinsic and innate immunity.
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- 2023
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11. Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
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Abolhassani, Hassan, Delavari, Samaneh, Landegren, Nils, Shokri, Sima, Bastard, Paul, Du, Likun, Zuo, Fanglei, Hajebi, Reza, Abolnezhadian, Farhad, Iranparast, Sara, Modaresi, Mohammadreza, Vosughimotlagh, Ahmad, Salami, Fereshte, Aranda-Guillen, Maribel, Cobat, Aurelie, Marcotte, Harold, Zhang, Shen-Ying, Zhang, Qian, Rezaei, Nima, Casanova, Jean-Laurent, Kämpe, Olle, Hammarström, Lennart, Pan-Hammarström, Qiang, Abolhassani, Hassan, Delavari, Samaneh, Landegren, Nils, Shokri, Sima, Bastard, Paul, Du, Likun, Zuo, Fanglei, Hajebi, Reza, Abolnezhadian, Farhad, Iranparast, Sara, Modaresi, Mohammadreza, Vosughimotlagh, Ahmad, Salami, Fereshte, Aranda-Guillen, Maribel, Cobat, Aurelie, Marcotte, Harold, Zhang, Shen-Ying, Zhang, Qian, Rezaei, Nima, Casanova, Jean-Laurent, Kämpe, Olle, Hammarström, Lennart, and Pan-Hammarström, Qiang
- Abstract
Background: Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the infection leads to hypoxemic pneumonia, although it is much more rare in children. Objective: We evaluated 31 young patients aged 0.5 to 19 years who had preexisting inborn errors of immunity (IEI) but lacked a molecular diagnosis and were later diagnosed with coronavirus disease 2019 (COVID-19) complications. Methods: Genetic evaluation by whole-exome sequencing was performed in all patients. SARS-CoV-2-specific antibodies, autoantibodies against type I IFN (IFN-I), and inflammatory factors in plasma were measured. We also reviewed COVID-19 disease severity/outcome in reported IEI patients. Results: A potential genetic cause of the IEI was identified in 28 patients (90.3%), including mutations that may affect IFN signaling, T- and B-cell function, the inflammasome, and the complement system. From tested patients 65.5% had detectable virus-specific antibodies, and 6.8% had autoantibodies neutralizing IFN-I. Five patients (16.1%) fulfilled the diagnostic criteria of multisystem inflammatory syndrome in children. Eleven patients (35.4%) died of COVID-19 complications. All together, at least 381 IEI children with COVID-19 have been reported in the literature to date. Although many patients with asymptomatic or mild disease may not have been reported, severe presentation of COVID-19 was observed in 23.6% of the published cases, and the mortality rate was 8.7%. Conclusions: Young patients with preexisting IEI may have higher mortality than children without IEI when infected with SARS-CoV-2. Elucidating the genetic basis of IEI patients with severe/critical COVID-19 may help to develop better strategies for prevention and treatment of severe COVID-19 disease and complications in pediatric patients.
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- 2022
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12. How do nuclear factor kappa B (NF-κB)1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?
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Fathi, Nazanin, Mojtahedi, Hanieh, Nasiri, Marzieh, Abolhassani, Hassan, Yousefpour Marzbali, Mahsa, Esmaeili, Marzie, Salami, Fereshte, Biglari, Furozan, and Rezaei, Nima
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NF-kappa B ,AUTOIMMUNE diseases ,SYMPTOMS ,IMMUNOLOGIC memory ,ANTIBODY formation ,IMMUNITY - Abstract
Genetic defects affect the manner of the immune system's development, activation, and function. Nuclear factor-kappa B subunit 1 (NF-κB1) and NF-κB2 are involved in different biological processes, and deficiency in these transcription factors may reveal clinical and immunological difficulties. This review article gathers the most frequent clinical and immunological remarkable characteristics of NF-κB1 and NF-κB2 deficiencies. Afterward, an effort is made to describe the biological mechanism, which is likely to be the cause of these clinical and immunological abnormalities. The present review article has explained the mechanism of contributions of the NF-κB1 and NF-κB2 deficiency in revealing immunodeficiency symptoms, specifically immunological and clinical manifestations. These mechanisms demonstrate the importance of NF-κB1 and NF-κB2 signaling pathways for B and T cell development, activation, antibody production, and immunotolerance. The manifestation of a mutation can range from no symptoms to severe complications in a family. NF-κB1 and NF-κB2 are the transcription factors that have an essential role in the development and function of the immune system. Several mutations in the NF-κBs could lead to inborn errors of immune manifestations. There are different reports of NF-κB mutations with various clinical and immunological manifestations, whereas the mechanisms behind the appearance of these have been less discussed. We collected frequent clinical and immunological manifestations from the literature and discussed the likely biological cause of their occurrence. Here we clarify the potential mechanism that defects in NF-κB1 and NF-κB2 signaling lead to inadequate B and T cells function, specifically, insufficient switched memory B cells and class-switched antibodies and autoimmunity. We also focused on the straight correlation between deficiencies in immune system responses caused by defects in NF-κB and susceptibility to recurrent infections and other clinical problems. Since our understanding of the mechanisms of signaling pathways such as NF-κB deficiencies from genetic mutations to clinical manifestations in PIDs is limited, further in vitro and animal model studies are necessary to assess these pathways' comprehensive roles in immunodeficiency more accurately. [ABSTRACT FROM AUTHOR]
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- 2023
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13. The Effects of Stimulation with PMA/Ionomycin on CD4+ T Cell Proliferation and Surface CD4 Molecule Modulation of Patients with LRBA Deficiency and CVID with the Unsolved Genetic Defect
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Azizi, Gholamreza, primary, Salami, Fereshte, additional, Shariati, Sahar, additional, Rasouli, Seyed Erfan, additional, Delavari, Samaneh, additional, Tavakol, Marzieh, additional, Sadri, Homa, additional, Asghari, Babak, additional, Yazdani, Reza, additional, Rezaei, Nima, additional, and Abolhassani, Hassan, additional
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- 2022
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14. The spectrum of ATM gene mutations in Iranian patients with ataxia‐telangiectasia
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Amirifar, Parisa, primary, Ranjouri, Mohammad Reza, additional, Pashangzadeh, Salar, additional, Lavin, Martin, additional, Yazdani, Reza, additional, Moeini Shad, Tannaz, additional, Mehrmohamadi, Mahya, additional, Salami, Fereshte, additional, Delavari, Samaneh, additional, Moamer, Soraya, additional, Aghamohammadi, Asghar, additional, Akrami, Seyed Mohammad, additional, and Abolhassani, Hassan, additional
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- 2021
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15. Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients
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Salami, Fereshte, Fekrvand, Saba, Yazdani, Reza, Shahkarami, Sepideh, Azizi, Gholamreza, Bagheri, Yasser, Delavari, Samaneh, Shariati, Sahar, Mahdaviani, Seyed Alireza, Nabavi, Mohammamd, Shirkani, Afshin, Abolhassani, Hassan, Samadi, Morteza, and Aghamohammadi, Asghar
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chemical and pharmacologic phenomena - Abstract
Common variable immunodeficiency (CVID) is a primary immunodeficiency disease with a heterogeneous genetic background. Lipopolysaccharide-responsive beige-like anchor (LRBA), as well as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), have important regulatory roles in the immune responses. Here, we have investigated the expression of LRBA and CTLA-4 proteins in CVID patients with at least one presentation of early-onset occurrence, autoimmunity, or enteropathy. In this study, 20 newly diagnosed CVID patients without infection only phenotype, and ten healthy individuals were enrolled. The expressions of LRBA and CTLA-4 proteins were assessed by western blotting and flow cytometry, respectively. The patients were divided into two groups of autoimmunity-positive (11 cases) and autoimmunity-negative (9 patients). LRBA and CTLA-4 expressions were significantly lower in autoimmune-positive patients than in healthy individuals (P = .03 and P = .03, respectively). Autoimmune-negative patients had lower expression of LRBA and CTLA-4 than the control group, although it was not significant. There was a positive correlation between the expressions of LRBA and CTLA-4 in both groups of patients (P
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- 2020
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16. B cells and T cells Abnormalities in Patients with Selective IgA Deficiency
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Bagheri, Yasser, primary, Shad, Tannaz Moeini, additional, namazi, shideh, additional, Azizi, Gholamreza, additional, Hosseini, Ali, additional, saeidi, mohsen, additional, tofighi, farzaneh, additional, Salami, Fereshte, additional, Pashangzadeh, salar, additional, Delavari, Samaneh, additional, mirmanachi, babak, additional, Rezaei, Nima, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, and Yazdani, Reza, additional
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- 2021
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17. The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia
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Amirifar, Parisa, primary, Ranjouri, Mohammad Reza, additional, Pashangzadeh, salar, additional, Lavin, Martin, additional, Yazdani, Reza, additional, Shad, Tannaz Moeini, additional, Mehrmohamadi, Mahya, additional, Salami, Fereshte, additional, Delavari, Samaneh, additional, Moamer, Soraya, additional, Aghamohammadi, Asghar, additional, Akrami, Seyed Mohammad, additional, and Abolhassani, Hassan, additional
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- 2020
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18. Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency
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Delavari, Samaneh, primary, Abolhassani, Hassan, additional, Abolnezhadian, Farhad, additional, Babaha, Fateme, additional, Iranparast, Sara, additional, Ahanchian, Hamid, additional, Moazzen, Nasrin, additional, Nabavi, Mohammad, additional, Arshi, Saba, additional, Fallahpour, Morteza, additional, Bemanian, Mohammad Hassan, additional, Shokri, Sima, additional, Momen, Tooba, additional, Sadeghi-Shabestari, Mahnaz, additional, Molatefi, Rasol, additional, Shirkani, Afshin, additional, Vosughimotlagh, Ahmad, additional, Safarirad, Molood, additional, Sharifzadeh, Meisam, additional, Pashangzadeh, Salar, additional, Salami, Fereshte, additional, Shirmast, Paniz, additional, Rezaei, Arezou, additional, Moeini Shad, Tannaz, additional, Mohraz, Minoo, additional, Rezaei, Nima, additional, Hammarström, Lennart, additional, Yazdani, Reza, additional, and Aghamohamamdi, Asghar, additional
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- 2020
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19. Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients
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Salami, Fereshte, primary, Fekrvand, Saba, additional, Yazdani, Reza, additional, Shahkarami, Sepideh, additional, Azizi, Gholamreza, additional, Bagheri, Yasser, additional, Delavari, Samaneh, additional, Shariati, Sahar, additional, Mahdaviani, Seyed Alireza, additional, Nabavi, Mohammamd, additional, Shirkani, Afshin, additional, Abolhassani, Hassan, additional, Samadi, Morteza, additional, and Aghamohammadi, Asghar, additional
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- 2020
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20. Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients.
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Salami, Fereshte, Fekrvand, Saba, Yazdani, Reza, Shahkarami, Sepideh, Azizi, Gholamreza, Bagheri, Yasser, Delavari, Samaneh, Shariati, Sahar, Mahdaviani, Seyed Alireza, Nabavi, Mohammamd, Shirkani, Afshin, Abolhassani, Hassan, Samadi, Morteza, and Aghamohammadi, Asghar
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COMMON variable immunodeficiency , *CYTOTOXIC T lymphocyte-associated molecule-4 , *PRIMARY immunodeficiency diseases , *PROTEINS - Abstract
Common variable immunodeficiency (CVID) is a primary immunodeficiency disease with a heterogeneous genetic background. Lipopolysaccharide-responsive beige-like anchor (LRBA), as well as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), have important regulatory roles in the immune responses. Here, we have investigated the expression of LRBA and CTLA-4 proteins in CVID patients with at least one presentation of early-onset occurrence, autoimmunity, or enteropathy. In this study, 20 newly diagnosed CVID patients without infection only phenotype, and ten healthy individuals were enrolled. The expressions of LRBA and CTLA-4 proteins were assessed by western blotting and flow cytometry, respectively. The patients were divided into two groups of autoimmunity-positive (11 cases) and autoimmunity-negative (9 patients). LRBA and CTLA-4 expressions were significantly lower in autoimmune-positive patients than in healthy individuals (P =.03 and P =.03, respectively). Autoimmune-negative patients had lower expression of LRBA and CTLA-4 than the control group, although it was not significant. There was a positive correlation between the expressions of LRBA and CTLA-4 in both groups of patients (P <.05). Furthermore, the highest frequency of LRBA (85.7%) and CTLA-4 (71.4%) defects was detected in those with concomitant presence of autoimmunity, enteropathy, and early-onset occurrence. Concurrent presence of autoimmunity, enteropathy, and early-onset occurrence in CVID patients could be indicative of a lack of expression in LRBA and CTLA-4 proteins. This could be helpful in early diagnosis and initiation of appropriate treatment in these patients prior to genetic confirmation. [ABSTRACT FROM AUTHOR]
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- 2022
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21. Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency
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Salami, Fereshte, primary, Shirkani, Afshin, additional, Shahrooei, Mohammad, additional, Azizi, Gholamreza, additional, Yazdani, Reza, additional, Abolhassani, Hassan, additional, and Aghamohammadi, Asghar, additional
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- 2020
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22. Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity
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Asgardoon, Mohammad Hossein, primary, Azizi, Gholamreza, additional, Yazdani, Reza, additional, Sohani, Mahsa, additional, Pashangzadeh, Salar, additional, Kalantari, Arash, additional, Shariat, Mansoureh, additional, Shafiei, Alireza, additional, Salami, Fereshte, additional, Jamee, Mahnaz, additional, Rasouli, Seyed Erfan, additional, Mohammadi, Javad, additional, Hassanpour, Gholamreza, additional, Tavakol, Marziyeh, additional, Chavoshzadeh, Zahra, additional, Mahdaviani, Seyed Alireza, additional, Momen, Tooba, additional, Behniafard, Nasrin, additional, Nabavi, Mohammad, additional, Bemanian, Mohammad Hassan, additional, Arshi, Saba, additional, Molatefi, Rasol, additional, Sherkat, Roya, additional, Shirkani, Afshin, additional, Alyasin, Soheila, additional, Jabbari-Azad, Farahzad, additional, Ghaffari, Javad, additional, Mesdaghi, Mehrnaz, additional, Ahanchian, Hamid, additional, Khoshkhui, Maryam, additional, Eslamian, Mohammad Hossein, additional, Cheraghi, Taher, additional, Dabbaghzadeh, Abbas, additional, Nasiri Kalmarzi, Rasoul, additional, Esmaeilzadeh, Hossein, additional, Tafaroji, Javad, additional, Khalili, Abbas, additional, Sadeghi-Shabestari, Mahnaz, additional, Darougar, Sepideh, additional, Moghtaderi, Mojgan, additional, Ahmadiafshar, Akefeh, additional, Shakerian, Behzad, additional, Heidarzadeh, Marzieh, additional, Ghalebaghi, Babak, additional, Fathi, Seyed Mohammad, additional, Darabi, Behzad, additional, Fallahpour, Morteza, additional, Mohsenzadeh, Azam, additional, Ebrahimi, Sarehsadat, additional, Sharafian, Samin, additional, Vosughimotlagh, Ahmad, additional, Tafakoridelbari, Mitra, additional, Rahimi Haji-Abadi, Maziyar, additional, Ashournia, Parisa, additional, Razaghian, Anahita, additional, Rezaei, Arezou, additional, Delavari, Samaneh, additional, Shirmast, Paniz, additional, Babaha, Fateme, additional, Samavat, Ashraf, additional, Mamishi, Setareh, additional, Khazaei, Hossein Ali, additional, Negahdari, Babak, additional, Rezaei, Nima, additional, Abolhassani, Hassan, additional, and Aghamohammadi, Asghar, additional
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- 2020
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23. The Effects of Stimulation with PMA/Ionomycin on CD4+ T Cell Proliferation and Surface CD4 Molecule Modulation of Patients with LRBA Deficiency and CVID with the Unsolved Genetic Defect.
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Salami F, Shariati S, Rasouli SE, Delavari S, Tavakol M, Sadri H, Asghari B, Yazdani R, Rezaei N, Abolhassani H, and Azizi G
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- Adaptor Proteins, Signal Transducing, CD4 Antigens metabolism, CD4-Positive T-Lymphocytes metabolism, Cell Proliferation, Humans, Ionomycin, Common Variable Immunodeficiency genetics
- Abstract
Background: Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiencies. LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency characterized by a CVID-like phenotype. Affected patients by LRBA and CVID present a wide range of clinical manifestations, including hypogammaglobulinemia, recurrent infections, autoimmunity, as well as T cell abnormality., Methods: The study population comprised of patients with CVID (n=10), LRBA deficiency (n=11), and healthy controls (n=12). CD4+ T cell frequency and CD4 MFI (mean fluorescence intensity) were evaluated using flow cytometry before and after stimulation with PMA/ION., Results: The frequencies of CD4+ T cells were significantly lower in patients with LRBA deficiency than in HCs before and after treatment. In the unstimulated state, the CD4+ T cells frequency in CVID patients was significantly lower than in HCs. There were no statistically significant differences between patients and healthy individuals in CD4+ T cell proliferation. Compared to HCs, LRBA and CVID patients showed a lower CD4 MFI in unstimulated conditions. Furthermore, CD4 MFI decreased in both patients and the control group following activation., Conclusion: Despite the reported decrease in CD4+ T cell frequency in patients with CVID and LRBA deficiency, our findings demonstrated that their CD4+ T cells have a normal proliferative response to stimuli similar to healthy individuals., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
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- 2022
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24. Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity.
- Author
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Azizi G, Tavakol M, Yazdani R, Delavari S, Moeini Shad T, Rasouli SE, Jamee M, Pashangzadeh S, Kalantari A, Shariat M, Shafiei A, Mohammadi J, Hassanpour G, Chavoshzadeh Z, Mahdaviani SA, Momen T, Behniafard N, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Shirkani A, Alyasin S, Jabbari-Azad F, Ghaffari J, Mesdaghi M, Ahanchian H, Khoshkhui M, Eslamian MH, Cheraghi T, Dabbaghzadeh A, Nasiri Kalmarzi R, Esmaeilzadeh H, Tafaroji J, Khalili A, Sadeghi-Shabestari M, Darougar S, Moghtaderi M, Ahmadiafshar A, Shakerian B, Heidarzadeh M, Ghalebaghi B, Fathi SM, Darabi B, Fallahpour M, Mohsenzadeh A, Ebrahimi S, Sharafian S, Vosughimotlagh A, Tafakoridelbari M, Rahimi Haji-Abadi M, Ashournia P, Razaghian A, Rezaei A, Salami F, Shirmast P, Bazargan N, Mamishi S, Khazaei HA, Negahdari B, Shokri S, Nabavizadeh SH, Bazregari S, Ghasemi R, Bayat S, Eshaghi H, Rezaei N, Abolhassani H, and Aghamohammadi A
- Subjects
- Adaptor Proteins, Signal Transducing genetics, Adolescent, Adult, Autoimmunity genetics, Child, Female, High-Throughput Nucleotide Sequencing, Humans, Iran epidemiology, Male, Retrospective Studies, Young Adult, Autoimmune Diseases epidemiology, Autoimmune Diseases genetics, Common Variable Immunodeficiency
- Abstract
Background: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations., Methods: We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data., Results: A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0-20.0) years were enrolled in this study. Overall, 331 patients (72.1%) were born to consanguineous parents. At the time of the study, 330 individuals (75.7%) were alive and 106 (24.3%) were deceased. Autoimmunity was reported in 92 (20.0%) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0-7.0) years. Sixteen patients (3.5%) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4%). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients, 23.0%), ATM (in 13 patients, 14.0%), and BTK (in 9 patients, 10.0%) genes. In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB (100%), 3 of 3 AIRE (100%), and 21 of 30 LRBA (70.0%) mutated genes had the highest prevalence of autoimmunity., Conclusions: Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders, especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next-generation sequencing to discover responsible genes for the immune dysregulation at an early stage of the disease., (© 2021 The Authors. Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)
- Published
- 2021
- Full Text
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